ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter)

dbSNP: rs1437789978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810512 SCV000950719 pathogenic Familial adenomatous polyposis 2 2023-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 654529). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln422*) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686).
All of Us Research Program, National Institutes of Health RCV000810512 SCV004825877 likely pathogenic Familial adenomatous polyposis 2 2023-08-15 criteria provided, single submitter clinical testing

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